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Interestingly, however, some patients with a nonsense mutation exhibit BMD phenotype, which is mostly attributed to the skipping of the exon containing the nonsense mutation, resulting in in-frame deletion. This study aims to find BMD cases with nonsense\/frameshift mutations in <jats:italic>DMD<\/jats:italic> and to investigate the exon skipping rate of those nonsense\/frameshift mutations. We searched for BMD cases with nonsense\/frameshift mutations in <jats:italic>DMD<\/jats:italic> in the Japanese Registry of Muscular Dystrophy. For each <jats:italic>DMD<\/jats:italic> mutation identified, we constructed minigene plasmids containing one exon with\/without a mutation and its flanking intronic sequence. We then introduced them into HeLa cells and measured the skipping rate of transcripts of the minigene by RT-qPCR. We found 363 cases with a nonsense\/frameshift mutation in <jats:italic>DMD<\/jats:italic> gene from a total of 1497 dystrophinopathy cases in the registry. Among them, 14 had BMD phenotype. Exon skipping rates were well correlated with presence or absence of dystrophin, suggesting that 5% exon skipping rate is critical for the presence of dystrophin in the sarcolemma, leading to milder phenotypes. Accurate quantification of the skipping rate is important in understanding the exact functions of the nonsense\/frameshift mutations in <jats:italic>DMD<\/jats:italic> and for interpreting the phenotypes of the BMD patients.<\/jats:p>","DOI":"10.1007\/s00439-019-02107-4","type":"journal-article","created":{"date-parts":[[2020,1,9]],"date-time":"2020-01-09T16:02:26Z","timestamp":1578585746000},"page":"247-255","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Exon skipping induced by nonsense\/frameshift mutations in DMD gene results in Becker muscular dystrophy"],"prefix":"10.1007","volume":"139","author":[{"given":"Mariko","family":"Okubo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6165-3716","authenticated-orcid":false,"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harumasa","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Komaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,1,9]]},"reference":[{"issue":"1","key":"2107_CR1","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","volume":"71","author":"K Anthony","year":"2014","unstructured":"Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Bbarresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci En Sewry C, Morgan J, Muntoni F (2014) Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 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